Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 41 - 50 of 675 for p phenotype
  1. APOE gene 
    ... WM, Schoonenboom SN, Pijnenburg YA, Fox NC, Scheltens P. The effect of APOE genotype on clinical phenotype in Alzheimer disease. Neurology. 2006 Aug 8;67( ...
    https://medlineplus.gov/genetics/gene/apoe - Genetics
  2. FLT4 gene 
    ... S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98- ...
    https://medlineplus.gov/genetics/gene/flt4 - Genetics
  3. APRT gene 
    ... L, Guillemot D, Bensman A, Harambat J, Deteix P, Daudon M, Knebelmann B, Ceballos-Picot I. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J ...
    https://medlineplus.gov/genetics/gene/aprt - Genetics
  4. Lamellar ichthyosis 
    ... M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  5. GRN-related frontotemporal lobar degeneration 
    ... 1148. Citation on PubMed van Swieten JC, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol. 2008 Oct;7( ...
    https://medlineplus.gov/...related-frontotemporal-lobar-degeneration - Genetics
  6. LMNA-related congenital muscular dystrophy 
    ... K, Rutz E, Schneider J, Frank S, Weber P, Fischer D. Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  7. TGM1 gene 
    ... M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  8. KRAS gene 
    ... YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M. Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  9. Miyoshi myopathy 
    ... G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. ...
    https://medlineplus.gov/genetics/condition/miyoshi-myopathy - Genetics
  10. Episodic ataxia 
    ... J, Rejou F, Coubes C, Pinson L, Meyer P, Roubertie A. FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9. Ann Clin Transl ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next